16 Matching Annotations
  1. Dec 2022
    1. Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment

      PMID: 12597058

      Gene: GAMT

      Disease:GAMT deficiency

      Inheritance:Autosomal Recessive

    1. Biochemical and clinical characteristics of creatine deficiency syndromes

      PMID: 15625559

      Gene:GAMT

      Disease:GAMT deficiency

      Inheritance: Autosomal Recessive

    1. Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency

      PMID: 12709373

      Gene: GAMT

      Disease:GAMT deficiency

      Inheritance: Autosomal Recessive

    1. OMIM 612718

      Case#: pt I, 21 y/o male

      DiseaseAssertion: GAMT deficiency

      FamilyInfo:non-consangeous parents of Yemenite Jewish descent

      CasePresentingHPOs: expressive speech was delayed, reduced strength and stamina, delayed general cognitive function

      CaseHPOFreeText: N/A

      CaseNotHPOs:N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: abnormal CK and EMG results

      Brain Magnetic Resonance Spectroscopy (MRS): appeared normal

      GAMT activity assay: N/A

      Zygosity: autosomal recessive

      Variant 1: OMIM 612718

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

    2. l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation

      PMID: 20682460 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

    1. OMIM 300352)

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

    2. OMIM 601240

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

    3. OMIM 602360

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

  2. Nov 2022
    1. Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice

      PMID: 32172372 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

    1. LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step

      PMID: 30858092 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

  3. Oct 2022
    1. Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report

      PMID: 32883247 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

    1. Guanidinoacetic acid

      No variants identified

    2. Guanidinoacetic acid deficiency: a new entity in clinical medicine?

      PMID: 33029096 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked